What is primary ciliary dyskinesia (PCD)?

What is PCD?

Primary ciliary dyskinesia (PCD) is a rare, inherited (passed down through the family), condition that affects several organs and gets worse over time. Children with PCD have a problem with mucus build-up, which leads to inflammation in the airways and infections in the lungs, nose, sinuses and ears.

Children with PCD have the condition all their lives. According to PCD Support UK, PCD affects 1 in 15,000 people in the UK.

How does PCD affect the body?

The tubes inside our lungs (our airways) produce mucus to help trap dust and germs. The mucus is then cleared by tiny hairs called cilia. The cilia move continually to clear mucus away from the lungs, nose, and ears.

If your child has PCD, the cilia don’t work properly. This leads to a build-up of mucus causing inflammation and infection in the airways, sinuses and ears.

What are the symptoms of PCD in children?

Most people with PCD have symptoms from birth or early childhood. But some children with PCD may not be diagnosed until they are school age. During this time, they may have had lots of infections in their lungs and ears, and many may have had courses of antibiotics.

75% of children with PCD have trouble breathing after birth. As new-born babies, they may have needed oxygen treatment for days or weeks after they were born. Usually, babies will recover quickly from breathing problems. However, they will often have a runny nose or rattly wet cough every day from the early days or weeks of life.

The symptoms of PCD are caused by the infection and inflammation in the lungs, nose and ears. Your child might have:

  • a constant blocked or runny nose
  • a constant wet cough, even when well
  • hearing problems, ear infections, or glue ear - this affects half of all children with PCD
  • wheezing or shortness of breath
  • clubbing - swelling in the ends of the fingers
  • a history of pneumonia.

These are common symptoms in children, so it can sometimes be difficult to find out whether it is PCD or not.

What causes PCD?

PCD is caused by problems with faulty genes. There are over 50 genes that cause PCD. Genes affect how the cilia (tiny hairs in our airways) look, how they work and how they move. A faulty gene may affect the cilia from working normally. This means mucus in the body is not cleared properly and leads to a build-up of mucus and infections.

Is there any way to prevent PCD?

No, there’s nothing that can be done to prevent PCD. But even though it cannot be prevented, early diagnosis and treatment can delay PCD from causing permanent lung damage.

Genetic testing for PCD

Because PCD is caused by a problem with the genes, there is a lot of research into genetic testing. Current genetic testing will pick up most forms of PCD. This is improving with more research, and it is thought that currently, about 80% of people with PCD can be diagnosed using genetic blood tests. New genes are found all the time.

Complications of PCD

Half of people with PCD have ‘situs inversus’. This means the organs in their chest and tummy are on the opposite side of the body from usual. PCD can also cause hearing problems and infertility (difficulty having children of their own).

Growing up with PCD

Fiona’s sons both have primary ciliary dyskinesia. Read their story.

If your child has PCD, contact the PCD Support Group UK for support and information.

What’s the outlook for children with PCD?

PCD is a life-long condition. The disease progression (how PCD develops over time) varies from person to person, and the long-term outlook depends on how severe your child’s symptoms are. Generally, PCD isn’t considered a life-threatening condition, but long-term lung disease can cause permanent damage. It’s thought that by adulthood, most people with PCD will have developed scarring on the lungs, known as bronchiectasis. This is because of the long-term damage caused by inflammation and infection of your child’s airways.

There’s currently no cure for PCD, but there are treatments that aim to improve or maintain your child’s normal lung function, as well as improve their symptoms and quality of life. Read more about the different types of treatment available.

Life with PCD

In the UK, any child with PCD should be registered into a service to access specialist teams who will look after them. The PCD team includes specialist nurses, doctors, physiotherapists, and psychologists who can help support your child and the family.

If your child is diagnosed later in life, getting a diagnosis of PCD might provide a sense of relief. It explains what’s been happening to them and getting treatment can reduce their symptoms. But being diagnosed with any long-term condition can be difficult, and there’s evidence to suggest PCD can have an emotional impact on your child, as well as any physical symptoms they may have.

If you are worried about your child’s wellbeing, talk to their specialist, doctor or nurse about your concerns.

As your child’s care moves from child to adult services, it’s important they continue their regular airway clearance exercises and any medication they need. As your child gets older, try to help them understand the importance of their treatment. They may be happy talking to their friends or teachers about their condition, or they might prefer to keep it private.

If you’re concerned about how your child is adapting to life with PCD, talk to their specialist, doctor or nurse. Your child’s PCD team can also help to support their needs at school. They can work with teachers to help them understand the condition.

Ask your child’s doctors who you can contact if you have any questions, or if you’re unsure about something. It’s important to be able to recognise if your child’s condition is getting worse, or if they’re becoming ill, and when you should seek emergency care. Agree a plan with the doctor or nurse about what you should do.

Caring for a child with a long-term condition like PCD can be difficult. It’s important you take time to take care of yourself, as well as your child. Talk to your doctor or nurse if you feel like you’re struggling to cope. You can always call our helpline too– they’re there to answer your questions, or just for a chat. Call 0300 222 5800, Monday to Friday between 9am – 5pm (excluding bank holidays).

Next: how is PCD diagnosed?

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